Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene

Eye

Volumn 23, Issue 3, 2009, Pages 519-521

  Al Maskari, A ^a   O'Grady, A ^b   Pal, B ^a   McKibbin, M ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Mutation; Phenotype; Retinitis pigmentosa; RPGR; X linked

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MYOPIA; PHENOTYPE; RETINITIS PIGMENTOSA; RPGR GENE; VISUAL ACUITY; VISUAL FIELD; X LINKED RETINITIS PIGMENTOSA; AGE; COMPLICATION; EYE REFRACTION; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PROCEDURES; SEX DIFFERENCE; X CHROMOSOME LINKED DISORDER; YOUNG ADULT;

EYE PROTEIN; RPGR PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE FACTORS; AGED; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOPIA; PEDIGREE; PHENOTYPE; REFRACTION, OCULAR; RETINITIS PIGMENTOSA; SEX FACTORS; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 62549130245     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2008.427     Document Type: Article

References (8)

1. Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A et al. RPGR mutation analysis and disease: an update. Hum Mutat 2007; 284: 322-328.
2. Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat 2007; 281: 81-91.
3. Rozet JM, Perrault I, Gigarel N, Souied E, Ghazi I, Gerber S et al. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J Med Genet 2002; 394: 284-285.
4. Hong DH, Pawlyk BS, Adamian M, Li T. Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci 2004; 451: 36-41.
5. Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl 2006; 95451: 11-15.
6. Sharon D, Bruns G, McGee T, Sandberg M, Berson E, Dryja T. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci 2000; 419: 2712-2721.
7. Andréasson S, Breuer D, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S et al. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. Ophthalmic Genet 2003; 244: 215-223.
8. Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M et al. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol 2008; 1263: 379-384.